Important Variant Information for ADH1C
Submitted by: Michelle Carrillo (PharmGKB)
Reviewed by: Under Review
Submitted date: March 1, 2008
- Jump To:
- ADH1C Overview
- All Annotated Genes
There are Two Important Variants for ADH1C.
| Gene HGNC Name: | ADH1C |
|---|---|
| Variant Summary: | ADH1C*1 is considered to protect against alcoholism because it is a fast acting metabolizer of ethanol, resulting in a build up of acetaldehyde. Compared to the *2 allele, this variant metabolizes ethanol 2.5 times as quickly in vitro [PMID: 14693654]. The accumulated acetaldehyde results in flushing and other uncomfortable side affects, and typically carriers consume less alcohol accordingly. However, some studies have indicated that this allele has minimal affect on alcohol consumption as compared to ADH1B alleles [PMID: 16792560]. ADH1C*1 is very common in Asians. In Caucasians, neither the *1 or *2 alleles are the large majority, but heterozygotes are common. |
| Key PubMed IDs: | 14693654 16792560 |
| Genomic Variant & GenBank ID: | NT_016354 |
| mRNA Variant & GenBank ID: | NM_00666 |
| Protein Variant & GenBank ID: | NP_000660 |
| dbSNP rs#: | NA |
| GoldenPath Position: | NA |
| Key Drugs/Substrates: | alcohol |
| Key Phenotypes/Diseases: | Alcoholism |
| Phenotype Data Sets: | NA |
| Gene HGNC Name: | ADH1C |
|---|---|
| Variant Summary: | ADH1C*2 is a slow acting metabolizer of ethanol. In Caucasians, this allele is probably responsible for the variation in acetaldehyde levels [PMID: 146936546. |
| Key PubMed IDs: | 14693654 16792560 |
| Genomic Variant & GenBank ID: | A13129G on NT_016354 |
| mRNA Variant & GenBank ID: | A1133G on NM_00666 |
| Protein Variant & GenBank ID: | I350V on NP_000660 |
| dbSNP rs#: | rs698 |
| GoldenPath Position: | chr4:100479812 |
| Key Drugs/Substrates: | alcohol |
| Key Phenotypes/Diseases: | Alcoholism |
| Phenotype Data Sets: | NA |
(allele frequence table optional)